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American journal of clinical pathology, ISSN 0002-9173, 01/2017, Volume 147, Issue 1, pp. 60 - 68
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1708, pp. 537 - 549
This chapter describes a method for the rapid assessment of promoter hypermethylation levels or methylation of imprinted regions in human genomic DNA extracted... 
MLPA | FFPE | Methylation-sensitive restriction enzymes paraffin | Genomic DNA | MS-MLPA | Coffalyser.Net | Methylation | DNA - genetics | Paraffin Embedding | DNA Probes | Genomic Imprinting | Promoter Regions, Genetic | DNA Methylation | Multiplex Polymerase Chain Reaction - methods | DNA - analysis | Humans | CpG Islands | Tissue Fixation | DNA - blood
Journal Article
American Journal of Surgical Pathology, ISSN 0147-5185, 2017, Volume 41, Issue 11, pp. 1443 - 1455
Journal Article
Diabetes mellitus, ISSN 2072-0351, 06/2019, Volume 22, Issue 2, pp. 170 - 176
Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 0001:400 000... 
permanent form | neonatal diabetes | pump insulin therapy
Journal Article
Clinical Lymphoma, Myeloma and Leukemia, ISSN 2152-2650, 10/2019, Volume 19, Issue 10, pp. e66 - e67
Journal Article
JBIC Journal of Biological Inorganic Chemistry, ISSN 0949-8257, 10/2011, Volume 16, Issue 7, pp. 1047 - 1056
Journal Article
Reports of biochemistry & molecular biology, ISSN 2322-3480, 04/2019, Volume 8, Issue 1, pp. 91 - 101
The aim of this study was to assess the usability of multiplex ligation-dependent probe amplification (MLPA) for copy number determination of gene family... 
Copy number variation | MLPA | IHC | Original | Breast Cancer | ERBB1-4
Journal Article
Journal of Molecular Diagnostics, ISSN 1525-1578, 11/2018, Volume 20, Issue 6, pp. 777 - 788
Multiple myeloma (MM) is a genetically heterogeneous disease with a diverse clinical outcome. Copy number alterations (CNAs), including whole chromosome and... 
IMPACT | MLPA | IN-SITU HYBRIDIZATION | FISH | CLASSIFICATION | TRISOMIES | LEUKEMIA | PATHOLOGY | CHROMOSOMAL-ABNORMALITIES | DETECT | DELETION
Journal Article
Journal Article
Diabetes mellitus, ISSN 2072-0351, 03/2015, Volume 18, Issue 1, pp. 110 - 114
We present a case of a teenage boy with a Rabson-Mendenhall syndrome. There are only few recent publications on the topic of Rabson-Mendenhall syndrome in... 
hyperglycaemia | insulin resistance | rabson-mendenhall syndrome
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 05/2010, Volume 285, Issue 22, pp. 17089 - 17097
Journal Article
BMC Developmental Biology, ISSN 1471-213X, 2008, Volume 8, Issue 1, pp. 68 - 68
Metal-responsive transcription factor 1 (MTF-1), which binds to metal response elements (MREs), plays a central role in transition metal detoxification and... 
Tissue Distribution | DNA-Binding Proteins - physiology | Drosophila Proteins - physiology | Transcription Factors - physiology | Animals | Response Elements | Drosophila | Protein Binding | Female | Male | Mice | Spermatozoa - cytology | Chromatin | Fertility | Physiological aspects | Genetic aspects | Research | DNA binding proteins | Structure
Journal Article
2018, Volume 1708
This chapter describes a method for the rapid assessment of promoter hypermethylation levels or methylation of imprinted regions in human genomic DNA extracted... 
MLPA | Molecular Biology | FFPE | Methylation-sensitive restriction enzymes paraffin | Genomic DNA | MS-MLPA | Genetics | Coffalyser.Net | Methylation
Book Chapter
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